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dc.contributor.authorGabbett, Michael T
dc.contributor.authorJeavons, Cassandra J
dc.contributor.authorGray, Peter H
dc.date.accessioned2021-06-09T06:12:21Z
dc.date.available2021-06-09T06:12:21Z
dc.date.issued2020
dc.identifier.issn1552-4825en_US
dc.identifier.doi10.1002/ajmg.a.61494en_US
dc.identifier.urihttp://hdl.handle.net/10072/405044
dc.description.abstractJansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R was demonstrated, but investigations for hypertension yielded normal results. Hypertension has not been previously associated with JMC. Given aberration of the parathyroid hormone (PTH)/parathyroid-related protein pathway is the underlying pathogenic mechanism attributed to JMC, and also given evidence that hyperparathyroidism plays an important role in blood pressure homeostasis, we propose that hypertension is a hitherto unrecognized feature of JMC.en_US
dc.description.peerreviewedYesen_US
dc.languageEnglishen_US
dc.publisherWileyen_US
dc.relation.ispartofpagefrom768en_US
dc.relation.ispartofpageto772en_US
dc.relation.ispartofissue4en_US
dc.relation.ispartofjournalAmerican Journal of Medical Genetics Part Aen_US
dc.relation.ispartofvolume182en_US
dc.subject.fieldofresearchGeneticsen_US
dc.subject.fieldofresearchClinical Sciencesen_US
dc.subject.fieldofresearchcode0604en_US
dc.subject.fieldofresearchcode1103en_US
dc.subject.keywordsScience & Technologyen_US
dc.subject.keywordsLife Sciences & Biomedicineen_US
dc.subject.keywordsGenetics & Heredityen_US
dc.subject.keywordshypertensionen_US
dc.subject.keywordsJansen metaphyseal chondrodysplasiaen_US
dc.titleSevere hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?en_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Articlesen_US
dcterms.bibliographicCitationGabbett, MT; Jeavons, CJ; Gray, PH, Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?, American Journal of Medical Genetics Part A, 2020, 182 (4), pp. 768-772en_US
dcterms.dateAccepted2020-01-12
dc.date.updated2021-06-09T06:08:53Z
dc.description.versionAccepted Manuscript (AM)en_US
gro.rights.copyright© 2020 Wiley-Liss, Inc. This is the peer reviewed version of the following article: Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?, American Journal of Medical Genetics Part A, 2020, 182 (4), pp. 768-772, which has been published in final form at https://doi.org/10.1002/ajmg.a.61494. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving (http://olabout.wiley.com/WileyCDA/Section/id-828039.html)en_US
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gro.griffith.authorGabbett, Michael T.


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